### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUP88) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "NUP88" "nucleoporin 88kDa" "17" "p13" "unknown" "NC_000017.10" "UD_132378565906" "" "https://www.LOVD.nl/NUP88" "" "1" "8067" "4927" "602552" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NUP88_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-27 12:51:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014934" "NUP88" "nucleoporin 88kDa" "001" "NM_002532.4" "" "NP_002523.2" "" "" "" "-89" "2406" "2226" "5323059" "5289346" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "05865" "FADS4" "akinesia, fetal, deformation sequence, type 4 (FADS4)" "AR" "618393" "" "" "" "00006" "2020-10-27 12:50:48" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NUP88" "01666" "NUP88" "05865" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00315497" "" "" "" "1" "" "00006" "{PMID:Bonnin 2018:30543681}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sisters" "M" "" "Australia" "" "0" "" "" "European" "FamB" "00315498" "" "" "" "4" "" "00006" "{PMID:Bonnin 2018:30543681}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents (2nd cousins)/relatives" "F;M" "yes" "Palestine" "" "0" "" "" "" "FamA" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00315497" "01666" "00315498" "01666" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01666, 05865 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000239248" "01666" "00315497" "00006" "Familial, autosomal recessive" "" "see paper; decreased fetal movements; polyhydramnios; arthrogryposis multiplex congenita; hypoplasia musculature; posteriorly rotated ears; microretrognathia, ..." "" "" "" "" "" "" "" "FADS4" "fetal akinesia deformation sequence" "0000239249" "01666" "00315498" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "FADS4" "fetal akinesia deformation sequence" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000316674" "00315497" "1" "00006" "00006" "2020-10-27 15:53:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000316675" "00315498" "1" "00006" "00006" "2020-10-27 15:59:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000316674" "NUP88" "0000316675" "NUP88" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 10 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000306706" "0" "30" "17" "5212026" "5212026" "subst" "0" "01943" "RABEP1_000001" "g.5212026T>A" "" "" "" "RABEP1(NM_004703.6):c.72T>A (p.I24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5308731T>A" "" "likely benign" "" "0000562309" "0" "50" "17" "5338269" "5338269" "subst" "4.4669E-5" "01804" "C1QBP_000001" "g.5338269T>C" "" "" "" "C1QBP(NM_001212.3):c.401A>G (p.(Asn134Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5434949T>C" "" "VUS" "" "0000698835" "11" "90" "17" "5292240" "5292240" "subst" "8.13915E-6" "00006" "NUP88_000002" "g.5292240G>A" "" "{PMID:Bonnin 2018:30543681}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.5388920G>A" "" "likely pathogenic (recessive)" "" "0000698836" "21" "70" "17" "5290721" "5290723" "del" "8.12896E-6" "00006" "NUP88_000003" "g.5290721_5290723del" "" "{PMID:Bonnin 2018:30543681}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.5387401_5387403del" "" "likely pathogenic (recessive)" "" "0000698837" "3" "70" "17" "5298293" "5298293" "subst" "0" "00006" "NUP88_000004" "g.5298293C>A" "" "{PMID:Bonnin 2018:30543681}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5394973C>A" "" "likely pathogenic (recessive)" "" "0000865368" "0" "30" "17" "5271746" "5271746" "subst" "1.2185E-5" "01943" "NUP88_000005" "g.5271746G>A" "" "" "" "RABEP1(NM_004703.6):c.1867G>A (p.D623N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914898" "0" "10" "17" "5336594" "5336594" "subst" "0.00581339" "02325" "C1QBP_000005" "g.5336594C>A" "" "" "" "C1QBP(NM_001212.4):c.699+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969083" "0" "50" "17" "5291126" "5291126" "subst" "0.00267751" "02325" "NUP88_000006" "g.5291126T>C" "" "" "" "NUP88(NM_002532.6):c.1742A>G (p.D581G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041989" "0" "50" "17" "5257669" "5257671" "del" "0" "01804" "NUP88_000007" "g.5257669_5257671del" "" "" "" "RABEP1(NM_004703.6):c.979_981del (p.(Gln327del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041990" "0" "30" "17" "5268413" "5268413" "subst" "2.24451E-5" "01804" "NUP88_000008" "g.5268413A>G" "" "" "" "RABEP1(NM_004703.6):c.1669-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NUP88 ## Count = 10 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000306706" "00014934" "30" "79726" "0" "79726" "0" "c.*77500A>T" "r.(=)" "p.(=)" "" "0000562309" "00014934" "50" "-15299" "0" "-15299" "0" "c.-15299A>G" "r.(?)" "p.(=)" "" "0000698835" "00014934" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509*)" "" "0000698836" "00014934" "70" "1899" "0" "1901" "0" "c.1899_1901del" "r.(?)" "p.(Glu634del)" "" "0000698837" "00014934" "70" "1300" "0" "1300" "0" "c.1300G>T" "r.(?)" "p.(Asp434Tyr)" "" "0000865368" "00014934" "30" "20006" "0" "20006" "0" "c.*17780C>T" "r.(=)" "p.(=)" "" "0000914898" "00014934" "10" "-13624" "0" "-13624" "0" "c.-13624G>T" "r.(?)" "p.(=)" "" "0000969083" "00014934" "50" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Asp581Gly)" "" "0001041989" "00014934" "50" "34086" "0" "34088" "0" "c.*31860_*31862del" "r.(=)" "p.(=)" "" "0001041990" "00014934" "30" "23339" "0" "23339" "0" "c.*21113T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000316674" "0000698835" "0000316674" "0000698836" "0000316675" "0000698837"